1/51. Peters' anomaly: dominant inheritance in one pedigree and dextrocardia in another.Two case reports are described to illustrate the unusual occurrence of dominant inheritance of Peters' anomaly and the concomitant occurrence of Peters' anomaly with colobomatous microphthalmos and dextrocardia. Studies of additional families are necessary to determine conclusively the pathogenesis, genetic mode of inheritance, ocular and systemic associated malformations, and proper management of this complex entity.- - - - - - - - - - ranking = 1keywords = dextrocardia (Clic here for more details about this article) |
2/51. The angiocardiographic appearance of the endocardial cushion defect in selected transposition and malposition complexes.Although the angiocardiographic features of the endocardial cushion defect (ECD) have been well described in the patient with two normally related ventricles (D-ventricular loop in situs solitus) and normally related great arteries, little attention has been focused on the angiocardiographic appearance of the ECD in patients with complex cardiovascular disease. Because of recent surgical advances in the treatment of single ventricle and double outlet right ventricle complexes, it has become increasingly important to document the status of the atrioventricular valves in these patients. The angiocardiographic features of the ECD are therefore described in two patients, one with D-loop, single left ventricle and outlet chamber, D-transposition of the great arteries, bilateral conus and pulmonary stenosis and the other with dextrocardia, situs inversus, double outlet right ventricle, common atrioventricular canal and pulmonary stenosis. In both patients, the left ventricular outflow tract, despite aortic-mitral discontinuity, is characterized by elongation, scalloping and serration, and the classic appearance of the "gooseneck" deformity is observed on left ventricular angiography. It thus appears that aortic-mitral continuity and two well-formed, normally related ventricles and great arteries are not invariable necessary to the manifestation of the "gooseneck" deformity in the patient with complex cardiovascular disease and associated endocardial cushion defect.- - - - - - - - - - ranking = 0.2keywords = dextrocardia (Clic here for more details about this article) |
3/51. Ivemark syndrome: asplenia with kidney collecting duct cysts and polysplenia with cerebellar cyst.Two newborns, one male and one female, from two different families, with Ivemark syndrome proven at autopsy are reported. One of them had asplenia and another had polysplenia. Both newborns had complex cardiac defects with isomerism of the lungs. The newborn with asplenia had dextrocardia, transposition of the great vessels, stenosis of the pulmonary artery, common atrioventricular canal and patent ductus arteriosus. The newborn with polysplenia had a common atrium, hypoplastic left ventricle and patent ductus arteriosus. The patient with asplenia had cystic dilated collecting ducts of the kidney and the patient with polysplenia had cerebellar cyst. These associate malformations have not been reported previously. Both cases were sporadic.- - - - - - - - - - ranking = 0.2keywords = dextrocardia (Clic here for more details about this article) |
4/51. A case with dextrocardia, ventricular septal defect, persistent left superior vena cava and drainage of the great cardiac vein into the left internal thoracic vein.A 17-month-old female patient was operated on for ventricular septal defect and pulmonary stenosis. During the operation several cardiac anomalies were observed; these were dextrocardia, ventricular septal defect, persistent left superior vena cava, drainage of the great cardiac vein into the left internal thoracic vein and a pericardial pouch. These anomalies have not previously been reported together.- - - - - - - - - - ranking = 1keywords = dextrocardia (Clic here for more details about this article) |
5/51. Johanson-Blizzard syndrome. a new case with autopsy findings.Here we present a new case of Johanson-Blizzard syndrome. Clinical features consistent with the diagnosis of Johanson-Blizzard syndrome in a term neonate are described: intra-uterine growth retardation, aplasia of the nasal alae, midline scalp defect, total situs inversus, imperforate anus, malrotation of the small intestine, pancreatic insufficiency, deafness, and lethal congenital heart defects with dextrocardia. These features were confirmed by findings at autopsy. parents were consanguineous. We compare these clinical features and findings at autopsy with previous cases reported in the literature.- - - - - - - - - - ranking = 0.2keywords = dextrocardia (Clic here for more details about this article) |
6/51. Antenatal diagnosis of mirror-image dextrocardia in association with situs inversus and Turner's mosaicism.We describe the antenatal diagnosis of a fetus with mirror-image dextrocardia, complete situs inversus and Turner's mosaicism (45,XO/46,XY) that was artificially terminated at 19 weeks. autopsy confirmed our initial findings. This case represents an unusual combination of anomalies rarely encountered in clinical practice.- - - - - - - - - - ranking = 1keywords = dextrocardia (Clic here for more details about this article) |
7/51. PAGOD syndrome: eighth case and comparison to animal models of congenital vitamin a deficiency.We observed a 46, XY infant with atrophy of the optic nerve, complex congenital heart disease including a double outlet right ventricle, hypoplasia of the right pulmonary artery and lung, eventration of the diaphragm, and ambiguous genitalia. The baby died of cardiac arrhythmias at 204 days. The pattern of malformations was compatible with pulmonary tract and pulmonary artery, agonadism, omphalocele, diaphragmatic defect, and dextrocardia (PAGOD) syndrome. The condition may resemble the malformation complex associated with developmental deficiency of vitamin A or retinoic acid, as described in animal models.- - - - - - - - - - ranking = 0.2keywords = dextrocardia (Clic here for more details about this article) |
8/51. Horseshoe lung in an infant with recurrent pulmonary infections.A case of horseshoe lung occurred in a 7-month-old infant, the first, we believe, to be associated with horseshoe kidney. This lesion should be considered in any infant with dextrocardia, recurrent cardio-respiratory distress, and pulmonary infections.- - - - - - - - - - ranking = 0.2keywords = dextrocardia (Clic here for more details about this article) |
9/51. Probable Marden-Walker syndrome: evidence for autosomal recessive inheritance.Two first cousins, the offspring of consanguineous marriages, had features suggestive of Marden-Walker syndrome. Phenotypic similarities and differences for Schwartz-Jampel syndrome have been discussed. Main features of the Marden-Walker syndrome are failure to thrive, marked motor and mental retardation, and multiple malformations in the form of peculiar facies associated wilth poor muscle mass, mild congenital joint contractures, pigeon breast, kyphoscoliosis and arachnodactyly. Peculiar facies is due to blepharophimosis, congenital ptosis, hypoplastic mandible and low-set and malformed ears. Posterior median cleft of the palate as well as cardiac and renal anomalies were noted in the case reported by Marden and Walker. Our Case 2 had dextrocardia. The present report suggests autosomal recessive inheritance of this syndrome.- - - - - - - - - - ranking = 0.2keywords = dextrocardia (Clic here for more details about this article) |
10/51. Spondylothoracic dysostosis associated with diaphragmatic hernia and camptodactyly.We present a case of a female newborn with a combination of congenital diaphragmatic hernia, skeletal defects, craniofacial dysmorphism, dextrocardia and persistent ductus arteriosus, and normal female karyotype. history of family and pregnancy-labour were non-contributory. The findings in the present patient are most compatible with the diagnosis of a spondylothoracic dysostosis with a set of uncommon anomalies.- - - - - - - - - - ranking = 0.2keywords = dextrocardia (Clic here for more details about this article) |
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